ABSTRACT
Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60 per cent of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6 per cent), one out of 151 Amerindians (0.6 per cent), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.
Subject(s)
Humans , Racial Groups/genetics , Factor V/genetics , Genetic Heterogeneity , Indians, South American/genetics , Mutation , Venous Thrombosis/ethnology , Black People/genetics , Asian People/genetics , White People/genetics , Polymerase Chain ReactionABSTRACT
A determinaçäo da distribuiçäo do alelo ApoE em cinco tribos de índios sulamericanos revelou ausência do alelo ApoE2, acompanhada por freqüência alta do alelo ApoE3 e baixa do alelo ApoE4 na maioria das tribos, uma distribuiçäo previamente relatada apenas para os esquimós Inuit da Groenlândia.
Subject(s)
Humans , Apolipoproteins E/deficiency , Indians, South American/genetics , Hyperlipidemias , Polymorphism, Genetic , Sequence Analysis, DNAABSTRACT
Os plasmas de um total de 488 indivíduos pertencentes a cinco populaçöes indígenas sul-americanas foram investigados, por meio de isoeletrofocalizaçäo, quanto ao sistema GC, e os resultados obtidos foram comparados aos descritos para onze outras tribos ameríndias. A um nível de 0,15 dissimilaridade genética foram observados quatro agrupamentos, näo tendo sido detectada uma associaçäo clara entre as freqüências alélicas neste sistema e a quantidade de radiaçäo solar